🧬 基因注释:RNASEH2A
官方名称:ribonuclease H2 subunit A
功能摘要:The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009].
- HNRNPC 综合评分: 0.474 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Rbmx 综合评分: 0.198 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- Rbm7 综合评分: 0.162 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
该基因暂无关联疾病记录